Varaico: Literature-Extracted Genetic Variants

Gene:NUP155
Variant:p.R786Q
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NUP155

NM_153485.3:p.R786Q

Associated Papers

Investigating cardiac genetic background in sudden infant death syndrome (SIDS).

Cazzato F et al.

International Journal of Legal Medicine, 2024

38849547 (PubMed )
Supplement: 414_2024_3264_MOESM1_ESM.xlsx › Foglio1

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.

Fernandez-Falgueras A et al.

Plos One, 2024

38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Alkhamis FA et al.

Functional & Integrative Genomics, 2023

36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants

Protein Subdomain Enrichment of NUP155 Variants Identify a Novel Predicted Pathogenic Hotspot.

Leonard RJ et al.

Frontiers in Cardiovascular Medicine, 2020

32118046 (PubMed )
Supplement: Table_1.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."